Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000356807 Individual ID 00471998 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 42w; moderate global developmental delay; intellectual disability (Griffiths 4y-IQ64); speech delay, only few words; no autism; 2y-hetero-aggressive behavior, hyperactivity; hypotonia; seizures; 2y6m/12y-EEG generalized paroxysisms, epileptiform abnormalities; MRI/CT reduced brain volume, ex-vacuo dilatation lateral asymmetric venticles (left>right), reduced white matter involving corpus callosum, cerebellar hypoplasia involving mainly inferior vermis, large cisterna magna, thin quadrigeminal lamina, occipital plagiocephaly; motor delay; postnatal macrocephaly, frontal bossing, right preauricular sinus, mild bleharophimosis, palpebral fissures; plagiocephaly, cubitus valgus, hypoplastic thenar and hypotenar eminences, hypoplasia of palmar creases, short 3rd fingers (3rd centile, with normal palm lenght); 2y5m-normal echoscan, 6y-8y-QT interval at superior limits, -9yQT interval normal; recurrent cystitis, 12y-normal abdominal echoscan; 2y6m/12y2m-normal eye fundus; growth failure, BMI 14.47 (<3th centile) Inheritance Isolated (sporadic) Age/Examination 12y3m (12 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.